ClinVar Miner

Submissions for variant NM_001145308.4(LRTOMT):c.-149C>T (rs145851613)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000388811 SCV000373956 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000601906 SCV000712159 benign not specified 2016-06-02 criteria provided, single submitter clinical testing p.Asp85Asp in exon 4B of LRTOMT: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1% (63/6614) of Finnish chromosomes and 0.3% (396/121398) total chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145851613).

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